ClinVar

NM_000162.5(GCK):c.770G>A (p.Trp257Ter)

Gene:

GCK:glucokinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 44147743 (on Assembly GRCh38)
• Chr7: 44187342 (on Assembly GRCh37)

Preferred name:

NM_000162.5(GCK):c.770G>A (p.Trp257Ter)

HGVS:

• NC_000007.14:g.44147743C>T
• NG_008847.2:g.55428G>A
• NM_000162.5:c.770G>AMANE SELECT
• NM_001354800.1:c.770G>A
• NM_033507.3:c.773G>A
• NM_033508.3:c.767G>A
• NP_000153.1:p.Trp257Ter
• NP_001341729.1:p.Trp257Ter
• NP_277042.1:p.Trp258Ter
• NP_277043.1:p.Trp256Ter
• LRG_1074t1:c.770G>A
• LRG_1074t2:c.773G>A
• LRG_1074:g.55428G>A
• LRG_1074p1:p.Trp257Ter
• LRG_1074p2:p.Trp258Ter
• NC_000007.13:g.44187342C>T

This HGVS expression did not pass validation

Protein change:

W256*

Links:

dbSNP: rs1562715426

NCBI 1000 Genomes Browser:

rs1562715426

Molecular consequence:

• NM_000162.5:c.770G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354800.1:c.770G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_033507.3:c.773G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_033508.3:c.767G>A - nonsense - [Sequence Ontology: SO:0001587]